C2677180[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374208	NM_014140.4(SMARCAL1):c.723C>A (p.Cys241Ter)	SMARCAL1 (C241*)	Single nucleotide variant (nonsense)	Decreased body weight +9 more	GPathogenic
Select item 4171	NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)	SMARCAL1 (E848*)	Single nucleotide variant (nonsense)	Steroid-resistant nephrotic syndrome +10 more	GPathogenic
Select item 374209	NM_001360.3(DHCR7):c.655T>C (p.Tyr219His)	DHCR7 (Y219H)	Single nucleotide variant (missense variant)	Elevated circulating 7-dehydrocholesterol concentration +3 more	GLikely pathogenic
Select item 21273	NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	DHCR7 (W151*)	Single nucleotide variant (nonsense)	DHCR7-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 523481	NM_005249.5(FOXG1):c.1067del (p.Phe356fs)	FOXG1 (F356fs)	Deletion (frameshift variant)	Intellectual disability, severe +2 more	GLikely pathogenic
Select item 374087	NM_001429.4(EP300):c.2053+4A>T	EP300	Single nucleotide variant (intron variant)	Menke-Hennekam syndrome 2 +7 more	GUncertain significance
Select item 523464	NM_001367721.1(CASK):c.2236+1delinsAT	CASK	Indel (splice donor variant)	Hypertonia +4 more	GLikely pathogenic
Select item 373939	NM_002025.4(AFF2):c.3209A>G (p.His1070Arg)	AFF2 (H1070R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +6 more	GUncertain significance

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